Linked Data
dbSNP Id:
rs754083708
ExAC:
19:41351286 C / A
gnomAD v2:
19-41351286-C-A
gnomAD v4:
19-40845381-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845381C>A , CM000681.2:g.40845381C>A | GRCh38 |
| NC_000019.9:g.41351286C>A , CM000681.1:g.41351286C>A | GRCh37 |
| NC_000019.8:g.46043126C>A | NCBI36 |
| NG_008377.1:g.10067G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1074G>T MANE Select | ENSP00000301141.4:p.Glu358Asp | |
| ENST00000301141.9:c.1074G>T | ENSP00000301141.4:p.Glu358Asp | |
| ENST00000596719.5:n.925G>T | ||
| ENST00000601627.1:c.119+43966C>A | ||
| ENST00000610301.1:c.1074G>T | ENSP00000477899.1:p.Glu358Asp | |
| NM_000762.5:c.1074G>T | NP_000753.3:p.Glu358Asp | |
| NM_000762.6:c.1074G>T MANE Select | NP_000753.3:p.Glu358Asp |